Canonical Allele Identifier: CA2647247631
Gene: AMPD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.114677814_114677815insCTCCTTCCTTCC , CM000663.2:g.114677814_114677815insCTCCTTCCTTCC GRCh38
NC_000001.10:g.115220435_115220436insCTCCTTCCTTCC , CM000663.1:g.115220435_115220436insCTCCTTCCTTCC GRCh37
NC_000001.9:g.115021958_115021959insCTCCTTCCTTCC NCBI36
NG_008012.1:g.22752_22753insGGGAAGGAAGGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000369538.4:c.1212+106_1212+107insGGGAAGGAAGGA ENSP00000358551.4:n.1212+106_1212+107insGGGAAGGAAGGA
ENST00000520113.7:c.1224+106_1224+107insGGGAAGGAAGGA MANE Select ENSP00000430075.3:n.1224+106_1224+107insGGGAAGGAAGGA
ENST00000637080.1:c.1007+106_1007+107insGGGAAGGAAGGA ENSP00000489753.1:n.1007+106_1007+107insGGGAAGGAAGGA
ENST00000639077.1:n.889+106_889+107insGGGAAGGAAGGA
ENST00000369538.3:c.1311+106_1311+107insGGGAAGGAAGGA ENSP00000358551.3:n.1311+106_1311+107insGGGAAGGAAGGA
ENST00000520113.6:c.1323+106_1323+107insGGGAAGGAAGGA ENSP00000430075.2:n.1323+106_1323+107insGGGAAGGAAGGA
NM_000036.2:c.1323+106_1323+107insGGGAAGGAAGGA NP_000027.2:n.1323+106_1323+107insGGGAAGGAAGGA
NM_001172626.1:c.1311+106_1311+107insGGGAAGGAAGGA NP_001166097.1:n.1311+106_1311+107insGGGAAGGAAGGA
NM_000036.3:c.1224+106_1224+107insGGGAAGGAAGGA MANE Select NP_000027.3:n.1224+106_1224+107insGGGAAGGAAGGA
NM_001172626.2:c.1212+106_1212+107insGGGAAGGAAGGA NP_001166097.2:n.1212+106_1212+107insGGGAAGGAAGGA